Bullous Erythroderma Ichthyosiformis Congenita of Brocq

Common Name(s)

Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by {23:Muller et al., 2006}).
{17:Goldsmith (1976)} used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see {146600}) when localized. They are presumably distinct entities.
A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; {144200}), is caused by mutation in the keratin gene KRT9 ({607606}), and a mild form of EPPK can also be caused by mutation in KRT1.

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Scientific Literature

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